Varaico: Literature-Extracted Genetic Variants

BTK

1,389 papers

RefSeq Summary

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure ...

Pfam Domains

PHaa 4–133UCSCPH domain

BTKaa 141–170UCSCBTK motif

SH3_1aa 220–266UCSCSH3 domain

SH2aa 281–355UCSCSH2 domain

SH2aa 281–362UCSCSH2 domain

PK_Tyr_Ser-Thraa 402–651UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Bruton tyrosine kinase

HGNC Previous Symbols

AGMX1; IMD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000061.3

p.G47_R48Splc

c.141+1G>A

Surrounding Variants

2 papers

NM_000061.3

p.G47_R48Splc

c.141+2T>A

1 paper

NM_000061.3

p.G47delFs

c.139delC

1 paper

NM_000061.3

p.R46_G47Fs

c.137_140delinsTTFs

1 paper

NM_000061.3

p.G47W

c.139G>T

1 paper

NM_000061.3

p.G47R

c.139G>C

1 paper

NM_000061.3

p.G47R

c.139G>A

4 papers

NM_000061.3

p.G47_R48Splc

c.141+5G>T

1 paper

NM_000061.3

p.G47_R48Splc

c.141+5G>C

1 paper

NM_000061.3

p.R46P

c.137G>C

1 paper

NM_000061.3

p.R46H

c.137G>A

1 paper

NM_000061.3

p.R46fs

c.136_137fs

2 papers

NM_000061.3

p.R46C

c.136C>T